| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Brachyrachia (short spine dysplasia) +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene